Mosaic RASopathies: A review of disorders caused by somatic pathogenic variants in the genes of the RAS/MAPK pathway
D Carli, N Resta, GB Ferrero… - American Journal of …, 2022 - Wiley Online Library
Mosaic RASopathies are a heterogeneous group of diseases characterized by the presence
at birth or early onset of congenital anomalies, cutaneous and vascular anomalies …
at birth or early onset of congenital anomalies, cutaneous and vascular anomalies …
Successful treatment with MEK‐inhibitor in a patient with NRAS‐related cutaneous skeletal hypophosphatemia syndrome
D Carli, S Cardaropoli, D Tessaris… - Genes …, 2022 - Wiley Online Library
Cutaneous skeletal hypophosphatemia syndrome (CSHS) is caused by somatic mosaic
NRAS variants and characterized by melanocytic/sebaceous naevi, eye, and brain …
NRAS variants and characterized by melanocytic/sebaceous naevi, eye, and brain …
[HTML][HTML] Investigation of 11p15. 5 Methylation Defects Associated with Beckwith-Wiedemann Spectrum and Embryonic Tumor Risk in Lateralized Overgrowth Patients
B Tüysüz, S Bozlak, D Uludağ Alkaya, S Ocak, B Kasap… - Cancers, 2023 - mdpi.com
Simple Summary Lateralized overgrowth may be isolated or accompany syndromes.
Recently, international BWS consensus proposed that the patients with isolated lateralized …
Recently, international BWS consensus proposed that the patients with isolated lateralized …
[HTML][HTML] Performance metrics of the scoring system for the diagnosis of the Beckwith–Wiedemann Spectrum (BWSp) and its correlation with cancer development
M Luca, D Carli, S Cardaropoli, D Milani, G Cocchi… - Cancers, 2023 - mdpi.com
Simple Summary Beckwith-Wiedemann syndrome (BWSp) has recently been renamed to
spectrum to reflect its diverse presentation and clinical features. In 2018, an international …
spectrum to reflect its diverse presentation and clinical features. In 2018, an international …
[HTML][HTML] Work-Up and Treatment Strategies for Individuals with PIK3CA-Related Disorders: A Consensus of Experts from the Scientific Committee of the Italian …
A Gazzin, C Leoni, G Viscogliosi, F Borgini, L Perri… - Genes, 2023 - mdpi.com
PIK3CA-related disorders encompass many rare and ultra-rare conditions caused by
somatic genetic variants that hyperactivate the PI3K-AKT-mTOR signaling pathway, which is …
somatic genetic variants that hyperactivate the PI3K-AKT-mTOR signaling pathway, which is …
Lateralized overgrowth with vascular malformation caused by a somatic PTPN11 pathogenic variant: Another piece added to the puzzle of mosaic RASopathies
A Mussa, A Turchiano, S Cardaropoli… - Genes …, 2022 - Wiley Online Library
Lateralized/segmental overgrowth disorders (LOs) encompass a heterogeneous group of
congenital conditions with excessive body tissue growth. Documented molecular alterations …
congenital conditions with excessive body tissue growth. Documented molecular alterations …
[HTML][HTML] Fetal Wilm's tumor detection preceding the development of isolated lateralized overgrowth of the limb: a case report and review of literature
E Bechara, C Saadé, C Geagea, D Charouf… - Frontiers in …, 2024 - frontiersin.org
Fetal Wilms tumor (WT) is extremely rare, but with advances in fetal imaging, more cases are
being reported. The management of these cases remains challenging. Herein, we present …
being reported. The management of these cases remains challenging. Herein, we present …
[HTML][HTML] SOLAMEN syndrome in a toddler
AB Wang, E Grossman, B Chow - Egyptian Journal of Radiology and …, 2024 - Springer
Background Segmental overgrowth, lipomatosis, arteriovenous malformation, and epidermal
nevus (SOLAMEN) syndrome is a segmental overgrowth syndrome that is part of Cowden's …
nevus (SOLAMEN) syndrome is a segmental overgrowth syndrome that is part of Cowden's …
Skeletal and Connective Tissue Cases: Asymmetric Leg Size in an Infant
R Weksberg, C Cytrynbaum - Genomics in the Clinic, 2024 - Elsevier
Skeletal and Connective Tissue Cases: Asymmetric Leg Size in an Infant - ScienceDirect
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[HTML][HTML] Polydactyly and Single Umbilical Artery: Lesser Known Associations with Beckwith–Weidemann Syndrome
D Rustogi - Indian Pediatrics Case Reports, 2022 - journals.lww.com
Background: Beckwith–Wiedemann syndrome (BWS) is the most common genetic
overgrowth syndrome characterized by the triad of macroglossia, macrosomia, and …
overgrowth syndrome characterized by the triad of macroglossia, macrosomia, and …